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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Mutation Direct
Effortless mutation search and display tool
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Search criteria:
Gene:
CHD2
& Disease:
ASD
, 5 results
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ClinVar
Gene
Nucleotide
Amino Acid
Transcript ID
Mutation type
Clinical Significance
Disease count
Publications
1434099
CHD2
c.5134C>T
p.His1712Tyr (p.H1712Y)
NM_001271.4
M
SNV
LB
2
+
2
2429798
CHD2
c.5474T>G
p.Val1825Gly (p.V1825G)
NM_001271.4
M
SNV
LB
1
+
1
2429797
CHD2
c.3427T>G
p.Tyr1143Asp (p.Y1143D)
NM_001271.4
M
SNV
LP
1
+
1
2429799
CHD2
c.995_999del
p.Val332fs (p.V332fs)
NM_001271.4
M
Del
P
1
+
1
CHD2
c.995_999del
p.Val332fs (p.V332fs)
NM_001042572.3
Del
P
1
+
1
5 Results, 20 per Page
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